Segmental Absence of Intestinal Musculature in a Child with Type IV Ehlers-Danlos Syndrome.

Nicole Zeky,Brent Keith,Randall D Craver,Jessica A Zagory,Celia Short

doi:10.3390/children8080680

Abstract

Patients with vascular Ehlers–Danlos syndrome (vEDS) have a defect in the formation of type III collagen. This defect puts patients at risk of vascular rupture, uterine rupture, and bowel perforations. The segmental absence of intestinal musculature is a rare histopathologic finding, wherein there is a lack of a muscularis propria layer in the intestinal wall. Although typically documented in the literature in neonates or adults, it can be seen in children of other ages. This is a case report of a patient who exhibits both rare entities, which has not been described in the literature to date.

Highlights

The segmental absence of the intestinal musculature (SAIM) is a rare clinicopathological entity characterized by the partial or complete absence of the muscularis propria and is associated with intestinal obstruction and perforation [1,2,3]
A review of 220 patients with confirmed vascular Ehlers–Danlos syndrome (vEDS) showed that 40% had a bowel perforAatibono,wmeol spteorffowrhaitciohncoisnsaisktendowofnpceorfmorpaltiicoantiionnthienspigamtieonidtscwoloitnh[v14E]D
A review of 220 patients with confirmed vEDS showed that 40% had a bowel perforation, most of which consisted of perforation in the sigmoid colon [14 One case report of a six-year-old boy indicated that he had two bowel perforations—on the colon with a colostomy placed and another perforation proximal to the colostomy site [13]

Summary

Introduction

The segmental absence of the intestinal musculature (SAIM) is a rare clinicopathological entity characterized by the partial or complete absence of the muscularis propria and is associated with intestinal obstruction and perforation [1,2,3]. Patients with a segmental absence of intestinal musculature present with abdominal distension, diminished bowel sounds, and eventual bowel obstruction or perforation [1,3,5]. This results in a lack of peristalsis and dilation of the proximal segment of the bowel [5]. Primary idiopathic is hypothesized to be secondary to abnormal embryogenesis with incomplete or discontinuous myogenesis [9] or from developmental diverticula in the embryonic small bowel, causing gaps in the muscularis propria [10] In these cases, there appears to be no inciting events and the histology demonstrates only a loss of the muscularis propria layer without pathologic findings in the remaining layers, such as fibrotic or inflammatory infiltrates [2]. Cardiology was consulted and carried out an echo showing mild aortic root dilation

Findings

Discussion

Conclusions